Key Points

Key Points on Genetic Testing

As with any medical test, there are three keys to using genetic tests well. These involve understanding:

  1. The question being asked of the test (the scope of the test)
  2. The clinical interpretation of the test result (application), and
  3. The potential for non-medical consequences arising from the test (ethical and social issues).

The scientific and technical foundations of the test can inform this understanding, but technical knowledge is not necessary for a test to be used wisely. The professional staff at Sonic Genetics do understand the scientific and technical foundations of each test. We partner with doctors to obtain the best outcome for their patients without requiring that every doctor becomes a geneticist.

Scope of the Test

Genes are the fundamental source of information that guides cells, tissues, and people in their development and their response to the environment. The fundamental nature of this information has provided staggering insight into the risks, pathogenesis and natural history of disease. However, it is important to note that factors other than genetics will also play a role. Hence a genetic test is not necessarily proof that a person will develop a condition, or that a genetic abnormality is the only reason for a disorder. A genetic test, like any other medical test, may yield a false positive or a false negative result.

The genetic pathologists at Sonic Genetics are available for consultation with doctors to clarify the scope of a test and its relevance in a particular context.

Application

A genetic result includes data (the description of the genetic status of the patient) and an interpretation (the potential impact of this on the patient’s wellbeing). The significance of this interpretation i.e. the application of the test result in decision-making for that patient, will vary according to the specific details of the patient’s condition. These details will not necessarily be known by the laboratory.

As with every medical test, the more information a doctor provides on the request form, the more useful will be the interpretation provided by the laboratory. Please help us to help you!

It may also be important to consider other non-genetic factors which may alter the clinical significance of a test result. For example, a test which indicates that a person is at risk of a familial disorder may not be medically relevant for a number of years. Conversely, there are some genetic test results that carry a degree of urgency and should lead to significant clinical decisions being implemented promptly.

The genetic pathologists at Sonic Genetics are available for consultation with doctors to assist in applying the result of a genetic test to a patient’s situation.

Ethical and Social Issues

Most medical tests provide information about the specific patient, and do not carry medical implications for relatives. On the other hand, tests for a familial disorder may carry significant medical and hence psychological implications for relatives. Investigations for familial disorders include genetic tests as well as more familiar tests e.g. measurements of serum cholesterol in familial hypercholesterolaemia.

Nonetheless, genetic tests for a familial or heritable mutation frequently raise issues regarding the psychological, social, financial, and legal implications of the test result that extend far beyond the medical implications for the patient tested.

These issues have been reviewed in a discussion document by the NHMRC regarding medical genetic testing.

The genetic pathologists at Sonic Genetics are available for consultation with doctors to assist in identifying general ethical and social issues potentially arising from the result of a genetic test, but it may be necessary to consult with a local ethics committee to address the specifics of a given situation.